滑膜肉瘤40例临床病理及分子遗传学特征

目的 探讨40例滑膜肉瘤(synovial sarcoma, SS)的临床病理及分子遗传学特征。方法 收集130例间叶组织来源恶性肿瘤,通过病理形态学、免疫组化及荧光原位杂交、二代测序,筛选出40例原发于骨与软组织的SS,并分析其临床病理、免疫表型及分子遗传学特征。结果 130例样本中有33例FISH检测SS18断裂阳性,2例二代测序SS18-SXX1融合阳性,结合病理形态学、免疫表型诊断为SS,另5例虽然FISH检测SS18断裂阴性,但结合免疫表型和病理形态学仍诊断为SS。40例样本中,单相型SS 14例,双相型SS 24例,差分化型SS 2例。免疫表型：几乎所有病例BCL-2、TLE1、CD99等均阳性,阳性率达90%以上。结论 部分SS结合临床、组织学及免疫表型可以诊断,结合FISH、二代测序等分子病理检测可更加精准区分SS、平滑肌肉瘤、纤维肉瘤等间叶组织来源恶性肿瘤。     

34例滑膜肉瘤分子遗传学改变的诊断学意义

目的 探讨石蜡包埋滑膜肉瘤组织中t(x；18)(p11．2；q11．2)染色体易位融合基因SYT-SSX mRNA表达的诊断学意义和应用价值。方法 收集滑膜肉瘤标本34例，以14例梭形细胞肉瘤和小圆细胞肉瘤做对照(包括2例纤维肉瘤、2例平滑肌肉瘤、1例恶性神经鞘膜瘤、4例Ewing肉瘤、2例腺泡型横纹肌肉瘤、2例恶性黑色素瘤、1例血管外皮瘤)。在进行免疫组织化学指标检测的基础上，用一步法逆转录-聚合酶链反应(RT-PCR)技术检测34例石蜡包埋滑膜肉瘤组织中SYT-SSX的表达。结果 34例滑膜肉瘤中30例获得有效RNA，28例(93．3％)检出SYT-SSX融合基因表达。其中14例表达SYT-SSXl型者中10例为双相型，9例表达SYT-SSX2型者中5例为单相分化型，5例SYT-SSXl／2均未检出。对照组均未检出SYT-SSX基因的表达。结论 SYT-SSX融合基因表达可作为诊断滑膜肉瘤新的分子诊断指标。一步法RT-PCR是一种理想而可行的用于石蜡包埋滑膜肉瘤组织SYT-SSX融合基因检测的分子诊断技术。     

不典型脂肪瘤样肿瘤/分化好的脂肪肉瘤的分子遗传学进展及临床应用

不典型脂肪瘤样肿瘤／分化好的脂肪肉瘤(atypical lipomatous tumor／well differentiated liposareoma,ALT／WDL)是较常见的一种软组织肿瘤。组织学上由较成熟的脂肪组织构成,但细胞常大小不一,伴散在的深染异型核及脂母细胞。它是一种中间性局部侵袭性的肿瘤,即可复发,不转移,但可进展为高度恶性的去分化脂肪肉瘤(dedifferentiated liposarcoma,DDL),从而获得转移的能力并导致患者死亡。     

横纹肌肉瘤分子遗传学研究进展

横纹肌肉瘤(rhabdomyosarcoma，RMS)是儿童软组织肿瘤中常见的一种恶性肿瘤，约占儿童软组织肿瘤的50％以上，占15岁以下儿童恶性肿瘤的4％～8％。依据其组织学特点可分为胚胎型(embryonal)，腺泡型(alveolar)和多形型(pleomorphic)。在被诊断为RMS的病例中约60％为胚胎型，20％为腺泡型，其余为多形型、未分化型和误诊的病例。     

白血病的细胞和分子遗传学改变

白血病的细胞和分子遗传学改变董硕陈赛娟陈竺许多人类癌肿都表现出非随机的遗传学异常，癌肿的发生发展与染色体的改变有着紧密的关系。现在已知有３种与癌肿有关的主要的细胞遗传学异常：即缺失、易位和倒位。缺失经常导致抑癌基因的丢失，而在人类造血系统恶性肿瘤（包...     

低分化滑膜肉瘤临床病理及分子遗传学研究

目的：研究低分化滑膜肉瘤的临床病理学特点及其分子遗传学表现。方法：收集低分化滑膜肉瘤标本121例，采用形态学观察和免疫组化染色，并用RT－PCR方法在石膜包埋组织中检测SYT－SSX融合mRNA表达。结果：12例低分化滑膜肉瘤中细胞型4例，大细胞型6例，高度恶性梭形细胞型2例。8例有随访资料其中4例死于肿瘤，平均生存时间18个月。免疫组化表现为CK和（或）EMA阳性，以EMA阳性率较高，同时vimentin阳性。S－100蛋白也有较高阳性率，多呈局灶或散在阳性。RT－PCR方法均可检测到SYT－SSXmRNA表达，对照组12例肿瘤包括恶性周围神经 鞘膜瘤、尤因肉瘤和恶性血管外皮瘤SYT－SSX检测全部阴性。结论：低分化滑膜肉瘤有其形态学及免疫表型特点，分子遗传学检测SYS－SSX融合mRNA有助于诊断和鉴别诊断。     

软组织肉瘤分子遗传学研究进展

软组织肉瘤是间叶源性恶性肿瘤,有其独特的细胞遗传学改变,根据肿瘤细胞遗传学特点可分为两大类:一类有着特殊的遗传学改变且核型简单;另一类则缺乏特殊遗传学改变但常常有着复杂的核型,这两类肿瘤在分子发生机制、治疗和预后方面均有所不同,因此了解和掌握其分子生物学改变对于肿瘤的诊治和预后具有重要意义.     

胃髓样癌的临床病理特征和分子遗传学改变

目的　探讨胃髓样癌的临床病理和分子遗传学特征。方法　 17例胃髓样癌和 6 4例非髓样癌 (低级别癌 19例 ,高级别癌 4 5例 )进行临床病理、免疫组织化学染色和微卫星不稳定性的比较研究。结果　胃髓样癌病理学以瘤细胞实体样排列和纤维少、富于淋巴细胞的间质为特征。与非髓样癌比较 ,还有以下特征 :(1)胃髓样癌、低级别癌平均生存时间好于高级别癌 ,差别有统计学意义 (P =0 0 0 4 )。 (2 )胃髓样癌 2 9 4 % (5 / 17例 )、非髓样癌 9 4 % (6 / 6 4例 )未累及浆膜 ,髓样癌较不易累犯浆膜 (P <0 0 5 ) ;髓样癌、非髓样癌各 70 5 % (12 / 17例 )和 2 0 8% (11/ 6 4例 )为推进性生长 ,髓样癌推进性生长较常见 (P =0 )。(3)胃髓样癌上皮内淋巴细胞中位数为 2 380 / 10HPF ,较非髓样癌 (14 7/ 10HPF)明显 (P =0 ) ;35 2 % (6 / 17例 )髓样癌、3 1%(2 / 17例 )非髓样癌瘤周淋巴细胞阳性 ,髓样癌瘤周淋巴细胞阳性较常见 (P =0 0 0 1) ;70 6 % (12 / 17例 )髓样癌Crohn样反应阳性 ,较非髓样癌 32 8% (2 1/ 6 4例 )常见 (P <0 0 5 )。 (4 )与低级别癌比较 ,胃髓样癌和高级别癌上皮钙粘素低表达更常见 (P<0 0 5 )。 (5 ) 4 1 2 % (7/ 17例 )胃髓样癌复制误差阳性 ,比非髓样癌的 2 5 % (1/ 6 4例 )更常见     

Cytogenetics and molecular genetics of lung cancer

The development and progression of lung cancer is a multistep process characterized by the accumulation of numerous genetic and epigenetic alterations, some of which occur early in the course of disease. In this review, we summarize cytogenetic imbalances and molecular genetic/epigenetic changes seen in human small-cell and non-small-cell lung cancer. Alterations of tumor suppressor genes and oncogenes leading to perturbations of key cell-regulatory and growth-control pathways are highlighted. The translational implications of molecular biomarkers for risk assessment, early detection, and monitoring of chemoprevention trials are discussed.     

Cytogenetics and molecular genetics of ovarian cancer

Genetic alterations identified in human ovarian tumors by conventional banding, fluorescence in situ hybridization, comparative genomic hybridization, chromosome microdissection, loss of heterozygosity, chromosome microcell-mediated chromosome transfer, and microarray gene expression analysis are summarized and correlated. The significance of these findings with respect to pathologic classification and clinical application are discussed.     

Cytogenetics and molecular genetics of bone and soft-tissue tumors

The cytogenetic and molecular findings in bone and soft-tissue sarcomas are summarized. A table presenting all such tumors, with their specific translocations and the genes involved, is included, along with a list of those tumors that most likely result from a stepwise process of numerous genetic changes.     

Cytogenetics and molecular genetics of cancer of the prostate

Prostate cancer remains the most common male malignancy in Western countries and the second-leading cause of death from cancer in males. Progress in the understanding of molecular and genetic mechanisms leading to this disease has only recently begun to offer a glimpse of the genes, chromosomal sites, and proteins implicated in the development and progression of prostate tumors. This brief review addresses some of the key issues in prostate cancer research, including a discussion of both hereditary and sporadic cancers as well as specific genes and chromosomal loci that likely play a part in the etiology of this disease.     

Cytogenetics and molecular genetics of Wilms' tumor of childhood.

We describe the way in which application of cytogenetic and molecular genetic techniques to the study of Wilms' tumor (WT) of the kidney and the associated congenital disorders, such as sporadic aniridia and the Beckwith-Wiedemann syndrome, has led to identification of two regions on the short arm of chromosome 11 (11p13 and 11p15) involved in tumor development. In addition, evidence shows that genomic imprinting may be an important factor in transformation. Such investigations have led to cloning of a candidate WT gene (WT1) from 11p13. Linkage studies in familial studies suggest that an additional locus is involved. Analysis of the cytogenetic data available on this tumor suggests that this may be situated on 1p, 16q, or 17p.     

Cytogenetics and molecular genetics of bladder cancer: a personal view

The cytogenetic and molecular genetic aspects that may be involved in the pathogenesis of bladder cancer are presented. Although anomalies of chromosome 9 may play an initial causative role in this cancer, the subsequent events, involving a succession of genetic changes, are less established or understood. This presentation is a distillation of what generally are considered to be the cytogenetic and molecular genetic events that constitute the array of changes underlying bladder cancer.     

性发育异常患者的细胞分子遗传学分析

目的: 探讨性发育异常患者的细胞分子遗传学特征。方法: 应用多重连接依赖的探针扩增(MLPA)技术对3例染色体核型为46,XX的男性性反转综合征患者及1例女性假两性畸形患者父母进行SRY、CYP21A2、DSS、DAX1、WNT4、SOX9、NR5A1等性别相关基因的拷贝数筛查,并采用细菌人工染色体(BAC)克隆制备探针,以荧光原位杂交技术(FISH)进行基因定位。结果: 3例男性性反转综合征患者经MLPA基因筛查均发现存在单拷贝SRY基因,FISH技术鉴定存在2条X染色体,SRY基因易位于其中1条X染色体的短臂上;女性假两性畸形患者的母亲染色体核型为46,XX,MLPA基因筛查发现其CYP21A2-ex03杂合性缺失,CYP21A1P-ex02杂合性重复;父亲染色体核型为46,XY,MLPA基因筛查发现CYP21A2-ex01和CYP21A2-ex03杂合性缺失,CYP21A1P-ex02和CYP21A1-ex10杂合性重复。结论: 性别决定是以SRY基因为主导、其它多个基因参与的过程,对性发育异常患者进行MLPA基因筛查有利于明确病因。     

柳州地区530例男性不育患者细胞遗传学与分子遗传学的分析

目的探讨Y染色体AZF基因缺失与男性不育症的关系,为临床辅助生殖技术提供理论支持。方法利用染色体核型分析、聚合酶链反应（polymerase chain reaction,PCR）和琼脂糖凝胶电泳（agarose gel electrophoresis,AGE）技术,对严重少弱精子症和无精子症男性不育患者进行无精子症因子（azoospermia factor,AZF）基因的15个位点分析。结果 530例不育症患者中有119例存在核型异常;34例存在AZF基因缺失,缺失率为6.4%。结论染色体数目结构异常与无精子症和严重少精子症的发生密切相关,Y染色体AZF基因缺失是导致男性不育的重要原因,辅助生殖治疗前有必要进行AZF基因缺失的检测。